Caffeine consumption outcomes on amyotrophic lateral sclerosis disease progression and cognition

Autor: Vincent Huin, David Blum, Violette Delforge, Emeline Cailliau, Sofia Djeziri, Kathy Dujardin, Alexandre Genet, Romain Viard, Shahram Attarian, Gaelle Bruneteau, Julien Cassereau, Steeve Genestet, Anne-Laure Kaminsky, Marie-Hélène Soriani, Mathilde Lefilliatre, Philippe Couratier, Sophie Pittion-Vouyovitch, Florence Esselin, Elisa De La Cruz, Nathalie Guy, Ivan Kolev, Philippe Corcia, Pascal Cintas, Claude Desnuelle, Luc Buée, Véronique Danel-Brunaud, David Devos, Anne-Sophie Rolland

Publikováno v: Neurobiology of Disease, Vol 199, Iss , Pp 106603- (2024)

Caffeine consumption outcomes on Amyotrophic Lateral Sclerosis (ALS) including progression, survival and cognition remain poorly defined and may depend on its metabolization influenced by genetic variants. 378 ALS patients with a precise evaluation o

Externí odkaz: https://doaj.org/article/972ce4d8410148ae8d535f49c2d84219

Mitochondrial disorders – from pathophysiology to acquired defectEdited by Claude Desnuelle and Salvatore DiMauroSpringer‐Verlag, France 2002Pp.325: price not stated

Autor: Michael Swash

Publikováno v: Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders. 4:123-123

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::93f3ca6e2546e285bb38b77cbbafc331
https://doi.org/10.1080/14660820310003475

A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease

Autor: Barry J. Byrne, Tarekegn Geberhiwot, Bruce A. Barshop, Richard Barohn, Derralynn Hughes, Drago Bratkovic, Claude Desnuelle, Pascal Laforet, Eugen Mengel, Mark Roberts, Peter Haroldsen, Kristin Reilley, Kala Jayaram, Ke Yang, Liron Walsh, on behalf of the POM-001/002 Investigators

Publikováno v: Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-10 (2017)

Abstract Background Late-onset Pompe disease is a rare genetic neuromuscular disorder caused by lysosomal acid alpha-glucosidase (GAA) deficiency that ultimately results in mobility loss and respiratory failure. Current enzyme replacement therapy wit

Externí odkaz: https://doaj.org/article/0f42cc539c044d06b2948b37cb169a2e

Clinical trials in pediatric ALS: a TRICALS feasibility study

Autor: Tessa Kliest, Ruben P.A. Van Eijk, Ammar Al-Chalabi, Alberto Albanese, Peter M. Andersen, Maria Del Mar Amador, Geir BrÅthen, Veronique Brunaud-Danel, Lev Brylev, William Camu, Mamede De Carvalho, Cristina Cereda, Hakan Cetin, Delia Chaverri, Adriano Chiò, Philippe Corcia, Philippe Couratier, Fabiola De Marchi, Claude Desnuelle, Michael A. Van Es, JesÚs Esteban, Massimiliano Filosto, Alberto GarcÍa Redondo, Julian Grosskreutz, Clemens O. Hanemann, Trygve HolmØy, Helle HØyer, Caroline Ingre, Blaz Koritnik, Magdalena Kuzma-Kozakiewicz, Thomas Lambert, Peter N. Leigh, Christian Lunetta, Jessica Mandrioli, Christopher J. Mcdermott, Thomas Meyer, Jesus S. Mora, Susanne Petri, MÓnica Povedano, Evy Reviers, Nilo Riva, Kit C.B. Roes, Miguel Á. Rubio, FranÇois Salachas, Stayko Sarafov, Gianni SorarÙ, Zorica Stevic, Kirsten Svenstrup, Anette Torvin MØller, Martin R. Turner, Philip Van Damme, Lucie A.G. Van Leeuwen, Luis Varona, Juan F. VÁzquez Costa, Markus Weber, Orla Hardiman, Leonard H. Van Den Berg

Publikováno v: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2022, pp.1-8. ⟨10.1080/21678421.2021.2024856⟩
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 23, 481-488
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 23, 7-8, pp. 481-488
Kliest, T, Van Eijk, R P A, Al-Chalabi, A, Albanese, A, Andersen, P M, Amador, M D M, BrÅthen, G, Brunaud-Danel, V, Brylev, L, Camu, W, De Carvalho, M, Cereda, C, Cetin, H, Chaverri, D, Chiò, A, Corcia, P, Couratier, P, De Marchi, F, Desnuelle, C, Van Es, M A, Esteban, J, Filosto, M, GarcÍa Redondo, A, Grosskreutz, J, Hanemann, C O, HolmØy, T, HØyer, H, Ingre, C, Koritnik, B, Kuzma-Kozakiewicz, M, Lambert, T, Leigh, P N, Lunetta, C, Mandrioli, J, Mcdermott, C J, Meyer, T, Mora, J S, Petri, S, Povedano, MÓ, Reviers, E, Riva, N, Roes, K C B, Rubio, M, Salachas, F, Sarafov, S, SorarÙ, G, Stevic, Z, Svenstrup, K, MØller, A T, Turner, M R, Van Damme, P, Van Leeuwen, L A G, Varona, L, VÁzquez Costa, J F, Weber, M, Hardiman, O & Van Den Berg, L H 2022, ' Clinical trials in pediatric ALS : a TRICALS feasibility study ', Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, vol. 23, no. 7-8, pp. 481-488 . https://doi.org/10.1080/21678421.2021.2024856

Background: Pediatric investigation plans (PIPs) describe how adult drugs can be studied in children. In 2015, PIPs for Amyotrophic Lateral Sclerosis (ALS) became mandatory for European marketing-authorization of adult treatments, unless a waiver is

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31fe6c6cded34ce9af67049e3ef23c06
https://hal-unilim.archives-ouvertes.fr/hal-03673852

Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study.

Autor: Celine Dogan, Marie De Antonio, Dalil Hamroun, Hugo Varet, Marianne Fabbro, Felix Rougier, Khadija Amarof, Marie-Christine Arne Bes, Anne-Laure Bedat-Millet, Anthony Behin, Remi Bellance, Françoise Bouhour, Celia Boutte, François Boyer, Emmanuelle Campana-Salort, Françoise Chapon, Pascal Cintas, Claude Desnuelle, Romain Deschamps, Valerie Drouin-Garraud, Xavier Ferrer, Helene Gervais-Bernard, Karima Ghorab, Pascal Laforet, Armelle Magot, Laurent Magy, Dominique Menard, Marie-Christine Minot, Aleksandra Nadaj-Pakleza, Sybille Pellieux, Yann Pereon, Marguerite Preudhomme, Jean Pouget, Sabrina Sacconi, Guilhem Sole, Tanya Stojkovich, Vincent Tiffreau, Andoni Urtizberea, Christophe Vial, Fabien Zagnoli, Gilbert Caranhac, Claude Bourlier, Gerard Riviere, Alain Geille, Romain K Gherardi, Bruno Eymard, Jack Puymirat, Sandrine Katsahian, Guillaume Bassez

Publikováno v: PLoS ONE, Vol 11, Iss 2, p e0148264 (2016)

Myotonic Dystrophy type 1 (DM1) is one of the most heterogeneous hereditary disease in terms of age of onset, clinical manifestations, and severity, challenging both medical management and clinical trials. The CTG expansion size is the main factor de

Externí odkaz: https://doaj.org/article/cf83b8ab743c4b25aa7cfa3285289205